| - GRCh37:
- Chr5:179260247
- GRCh38:
- Chr5:179833247
| SQSTM1 | | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr5:179260748-179260751
- GRCh38:
- Chr5:179833748-179833751
| SQSTM1 | E379fs, E295fs | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr5:179260061-179260097
- GRCh38:
- Chr5:179833061-179833097
| SQSTM1 | G178fs, G262fs | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | Pathogenic
(May 2, 2022) | no assertion criteria provided |
| | SQSTM1 | | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | Pathogenic
(Jan 25, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr5:179260211-179260213
- GRCh38:
- Chr5:179833211-179833213
| SQSTM1 | R312*, R228* | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | Pathogenic
(Apr 7, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr5:179250055
- GRCh38:
- Chr5:179823055
| SQSTM1 | | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | Pathogenic
(Jan 25, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr5:179260009
- GRCh38:
- Chr5:179833009
| SQSTM1 | | Myopathy, distal, with rimmed vacuoles, Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, Paget disease of bone 3,
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, not provided | Benign
(Jul 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:179247937
- GRCh38:
- Chr5:179820937
| SQSTM1 | M1V | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, not provided, Paget disease of bone 2, early-onset,
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | Conflicting interpretations of pathogenicity
(May 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:179248110-179248111
- GRCh38:
- Chr5:179821110-179821111
| LOC129995449, SQSTM1 | R59fs | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | Pathogenic
(Jun 10, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr5:179260677-179260678
- GRCh38:
- Chr5:179833677-179833678
| SQSTM1 | Q270fs, Q354fs | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset, Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
| Uncertain significance
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:179264486
- GRCh38:
- Chr5:179837486
| SQSTM1, MRNIP | E313*, E258* | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | Uncertain significance
(Oct 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:179263446
- GRCh38:
- Chr5:179836446
| SQSTM1 | | Paget disease of bone 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset,
Myopathy, distal, with rimmed vacuoles, Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1,
not specified, Paget disease of bone 3, not provided
| Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:179260601
- GRCh38:
- Chr5:179833601
| SQSTM1 | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset, not provided,
not specified, Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, Myopathy, distal, with rimmed vacuoles,
Paget disease of bone 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, Paget disease of bone 3
| Benign/Likely benign
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:179250038
- GRCh38:
- Chr5:179823038
| SQSTM1 | R96*, R12* | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset
| Pathogenic
(Jan 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:179250865-179250866
- GRCh38:
- Chr5:179823865-179823866
| SQSTM1 | E104fs, E20fs | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | Pathogenic
(May 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:179247938
- GRCh38:
- Chr5:179820938
| SQSTM1 | M1K | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | Pathogenic
(Oct 10, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr5:179260213
- GRCh38:
- Chr5:179833213
| SQSTM1 | | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, Paget disease of bone 2, early-onset, not specified,
not provided, Myopathy, distal, with rimmed vacuoles, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1,
Paget disease of bone 2, early-onset, Paget disease of bone 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
| Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:179260153
- GRCh38:
- Chr5:179833153
| SQSTM1 | | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, Paget disease of bone 2, early-onset, not provided,
Myopathy, distal, with rimmed vacuoles, not specified, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1,
Paget disease of bone 2, early-onset, Paget disease of bone 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
| Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |